How to tell dystrophies of Bowman's layer (Reis‐Bücklers and Thiel‐Behnke) from one another

Abstract

Abstract Purpose To discuss difficulties encountered in differentiating two classic dystrophies of the Bowman layer caused by mutations of the TGFBI gene: Thiel–Behnke corneal dystrophy (TBCD) and Reis–Bücklers corneal dystrophy (RBCD). Methods Critical review of published data by the IC3D group and personal experience of the author as an ophthalmic pathologist and clinician. Results It has traditionally been difficult to recognise and distinguish TBCD and RBCD, so much so that some early papers claimed to describe the ultrastructure of RBCD actually analysed tissue from patients with TBCD; the known entity of RBCD was described as an unusual variant of granular corneal dystrophy; and Waardenburg‐Jonkers dystrophy appeared for eyars in textbooks although their patients had TBCD. The main problem is that both dystrophies are fairly rare and clinicians seldom have personal prior experience or adequate literature knowledge of both when they encounter a patient; and the literature with its frequent errors in diagnoses has not been that helpful. Conclusion TBCD and RBCD may be differentiated by careful clinical and ophthalmic pathologic examination if the clinician and pathologist are experienced; genetic or electron microscopic examination is needed for unequivocal confirmation.